Valve-Sparing Root and Total Arch Replacement for Cutis Laxa Aortopathy

Anji T Yetman1, James Hammel2, Jennifer N Sanmann3

  • 11 Cardiology, Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA.

Summary

A rare genetic disorder, cutis laxa, caused a three-year-old's aortic aneurysm. Genetic analysis revealed a novel EFEMP2 mutation, leading to successful surgical repair and a two-year disease-free follow-up.